Results 231 to 240 of about 178,919 (265)

Autosomal dominant holocalvarial craniosynostosis

Child's Nervous System, 1995
Isolated holocalvarial synostosis with normal intelligence is described in two pairs of sibs from one kindred. Diagnosis was delayed until the age of 5 years in the pro-band. The gene carriers were asymptomatic and had no head deformity. The genetic pattern is consistent with autosomal dominant inheritance.
G, Pillar, M, Zaaroor, R, Gershoni-Baruch   +2 more
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Osteomesopyknosis: An autosomal dominant osteosclerosis

American Journal of Medical Genetics, 1981
AbstractRadiographs of a 27‐year‐old sterile woman showed increased bone density. The lesions were localized to the spine and pelvis. The condition is inherited as an autosomal dominant trait and has been designated osteomesopyknosis.
Claude G. Stoll, Dominique Collin, Jean Dreyfus, John M. Opitz   +3 more
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Autosomal dominant lamellar ichthyosis

Clinical Genetics, 1986
Five members of two generations of one family were affected with lamellar ichthyosis, suggesting autosomal dominant transmission. The clinical and histopathological characteristics of the cases described here are similar to those reported by Traupe et al.
J, Toribio, V, Fernández Redondo, C, Peteiro, A, Zulaica, J M, Fabeiro   +4 more
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Autosomal dominant ichthyosis exfoliativa

British Journal of Dermatology, 1991
An unusual ichthyosiform dermatosis with circumscribed areas of blistering hyperkeratoses as well as scaly areas was observed in five consecutive generations of a German family. Light and electron microscopical studies revealed oedema of the keratinocytes in the upper epidermis but no defects of tonofilaments and keratohyalin granules.
F, Vakilzadeh, G, Kolde
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Autosomal-dominant primary immunodeficiencies

Current Opinion in Hematology, 2005
The vast majority of known primary immunodeficiencies (PIDs) are autosomal or X-linked recessive Mendelian traits. Only four classical primary immunodeficiencies are thought to be autosomal-dominant, three of which still lack a well-defined genetic etiology: isolated congenital asplenia, isolated chronic mucocutaneous candidiasis, and hyper IgE ...
Lawrence, Tatiana, Puel, Anne, Reichenbach, Janine, Ku, Cheng-Lung, Chapgier, Ariane, Renner, Ellen, Minard-Colin, Véronique, Ouachée, Marie, Casanova, Jean-Laurent   +8 more
openaire   +3 more sources

Autosomal Dominant Exudative Vitreoretinopathy

Archives of Ophthalmology, 1984
To the Editor. —In their article in the OctoberArchives, Feldman et al 1 confirmed the extreme variability of clinical signs of autosomal dominant exudative vitreoretinopathy. Their findings agree with observations of other recent studies of (autosomal) dominant exudative vitreoretinopathy. 2,3 Feldman et al 1 reported the occurrence of intraretinal
openaire   +2 more sources

Brachyolmia: An autosomal dominant form

American Journal of Medical Genetics, 1994
AbstractWe have investigated a mother and son of South African Xhosa stock who presented with short‐trunk dwarfism and kyphoscoliosis. Radiographs show the marked platyspondyly and vertebral irregularity characteristic of brachyolmia. Our patients provide further evidence for the existence of an autosomal dominant form and supports the theory of ...
J, Gardner, P, Beighton
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Autosomal-dominant cerebellar ataxias

2018
Spinocerebellar ataxias (SCAs) are a genetically diverse group of dominantly inherited disorders that share clinical features that result from dysfunction and degeneration of the cerebellum and its associated pathways. Although nearly 40 genes are currently recognized to result in SCA, shared mechanisms for disease pathogenesis exist among subsets of ...
Andrew, Mundwiler, Vikram G, Shakkottai
openaire   +2 more sources

Autosomal dominant transmission of acrodysostosis

Clinical Dysmorphology, 1992
A mother and daughter with acrodysostosis are described. This documented parent-to-child transmission supports the hypothesis of autosomal dominant inheritance of acrodysostosis. The daughter exhibited many features of acrodysostosis by two months of age, demonstrating that acrodysostosis may be diagnosed in infancy.
R D, Steiner, R A, Pagon
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Autosomal dominant cemental dysplasia

Oral Surgery, Oral Medicine, Oral Pathology, 1982
Abstract Autosomal dominant cemental dysplasia is the term chosen to describe what is considered to be a new entity affecting cementum and neighboring bone. The condition was present in ten members of the same family, segregating as an autosomal dominant trait. A review of the literature failed to demonstrate previously reported cases. The name was
H O, Sedano, R, Kuba, R J, Gorlin
openaire   +2 more sources